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Aliases for SRGAP2 Gene

Aliases for SRGAP2 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2 2 3 5
  • Rho GTPase-Activating Protein 34 3 4
  • Formin-Binding Protein 2 3 4
  • ARHGAP34 3 4
  • SRGAP2A 3 4
  • FNBP2 3 4
  • Formin Binding Protein 2 2
  • SLIT-ROBO GAP2 3
  • KIAA0456 4
  • SRGAP3 3
  • SrGAP2 4

External Ids for SRGAP2 Gene

Previous HGNC Symbols for SRGAP2 Gene

  • FNBP2

Previous GeneCards Identifiers for SRGAP2 Gene

  • GC01P205217
  • GC03M008962
  • GC03M008997
  • GC01P202944
  • GC01P204583
  • GC01P206516
  • GC01P177269

Summaries for SRGAP2 Gene

Entrez Gene Summary for SRGAP2 Gene

  • This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]

GeneCards Summary for SRGAP2 Gene

SRGAP2 (SLIT-ROBO Rho GTPase Activating Protein 2) is a Protein Coding gene. Diseases associated with SRGAP2 include Infantile Epileptic Encephalopathy and 3P- Syndrome. Among its related pathways are Axon guidance and Signaling by Rho GTPases. GO annotations related to this gene include protein homodimerization activity and Rac GTPase binding. An important paralog of this gene is SRGAP3.

UniProtKB/Swiss-Prot for SRGAP2 Gene

  • RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP2 Gene

Genomics for SRGAP2 Gene

Regulatory Elements for SRGAP2 Gene

Enhancers for SRGAP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SRGAP2 on UCSC Golden Path with GeneCards custom track

Promoters for SRGAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SRGAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SRGAP2 Gene

Chromosome:
1
Start:
206,203,345 bp from pter
End:
206,464,443 bp from pter
Size:
261,099 bases
Orientation:
Plus strand

Genomic View for SRGAP2 Gene

Genes around SRGAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2 Gene

Proteins for SRGAP2 Gene

  • Protein details for SRGAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75044-SRGP2_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 2
    Protein Accession:
    O75044

    Protein attributes for SRGAP2 Gene

    Size:
    1071 amino acids
    Molecular mass:
    120881 Da
    Quaternary structure:
    • Homodimer (Probable). Forms a heterooligomer with SRGAP1 and SRGAP3 through its F-BAR domain. Interacts (via SH3 domain) with GPHN (By similarity). Interacts with SRGAP2C; formation of the heterodimer alters SRGAP2 function. Interacts (via SH3 domain) with FMNL1 (activated by RAC1); regulates the actin filament severing activity of FMNL1 and actin dynamics. Interacts (via SH3 domain) with FMNL3. Interacts with RAC1; specifically stimulates RAC1 GTPase activity. Probably interacts with ROBO1 and ROBO2. Interacts with FASLG. Interacts with PRMT5.
    Miscellaneous:
    • There are 3 duplications of SRGAP2 in the human genome as a result of segmental gene duplications. SRGAP2C is the only one to be fixed at a diploid state in the human genome. Moreover, SRGAP2C is functional, interacts with and inhibits SRGAP2 and is human-specific. The appearance of SRGAP2C in the human genome is estimated to 2,4 million years ago, which corresponds to the beginning of neocortex expansion in human evolution and it may have played an important role in this process through its interaction with SRGAP2 function.
    SequenceCaution:
    • Sequence=BAA32301.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SRGAP2 Gene

neXtProt entry for SRGAP2 Gene

Proteomics data for SRGAP2 Gene at MOPED

Post-translational modifications for SRGAP2 Gene

  • Methylation at Arg-927 is required for the stimulation of cell migration, dimerization and localization at the plasma membrane protrusions.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SRGAP2 Gene

Domains & Families for SRGAP2 Gene

Gene Families for SRGAP2 Gene

Graphical View of Domain Structure for InterPro Entry

O75044

UniProtKB/Swiss-Prot:

SRGP2_HUMAN :
  • The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.
Domain:
  • The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.
  • Contains 1 F-BAR domain.
  • Contains 1 Rho-GAP domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with SRGAP2: view

Function for SRGAP2 Gene

Molecular function for SRGAP2 Gene

UniProtKB/Swiss-Prot Function:
RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia.

Gene Ontology (GO) - Molecular Function for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
genes like me logo Genes that share ontologies with SRGAP2: view
genes like me logo Genes that share phenotypes with SRGAP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRGAP2 Gene

Localization for SRGAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRGAP2 Gene

Cell membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse, postsynaptic cell membrane. Cell projection, lamellipodium. Cytoplasmic vesicle, phagosome. Nucleus. Cytoplasm. Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates from nucleus to cytoplasm during development. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRGAP2 Gene COMPARTMENTS Subcellular localization image for SRGAP2 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA --
GO:0005829 cytosol TAS --
GO:0030027 lamellipodium IDA 20810653
genes like me logo Genes that share ontologies with SRGAP2: view

Pathways & Interactions for SRGAP2 Gene

genes like me logo Genes that share pathways with SRGAP2: view

Pathways by source for SRGAP2 Gene

Gene Ontology (GO) - Biological Process for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003363 lamellipodium assembly involved in ameboidal cell migration IMP 20810653
GO:0043547 positive regulation of GTPase activity IMP 20810653
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with SRGAP2: view

No data available for SIGNOR curated interactions for SRGAP2 Gene

Drugs & Compounds for SRGAP2 Gene

No Compound Related Data Available

Transcripts for SRGAP2 Gene

Unigene Clusters for SRGAP2 Gene

SLIT-ROBO Rho GTPase activating protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP2 Gene

No ASD Table

Relevant External Links for SRGAP2 Gene

GeneLoc Exon Structure for
SRGAP2
ECgene alternative splicing isoforms for
SRGAP2

Expression for SRGAP2 Gene

mRNA expression in normal human tissues for SRGAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRGAP2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.0) and Brain - Cerebellum (x7.0).

Protein differential expression in normal tissues from HIPED for SRGAP2 Gene

This gene is overexpressed in Fetal Brain (31.2), Peripheral blood mononuclear cells (7.1), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SRGAP2 Gene



SOURCE GeneReport for Unigene cluster for SRGAP2 Gene Hs.497575

genes like me logo Genes that share expression patterns with SRGAP2: view

Protein tissue co-expression partners for SRGAP2 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SRGAP2 Gene

Orthologs for SRGAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SRGAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SRGAP2 35
  • 93.28 (n)
  • 98.69 (a)
dog
(Canis familiaris)
Mammalia SRGAP2 35
  • 94.21 (n)
  • 98.88 (a)
mouse
(Mus musculus)
Mammalia Srgap2 35
  • 91.78 (n)
  • 98.23 (a)
Srgap2 16
chimpanzee
(Pan troglodytes)
Mammalia SRGAP2 35
  • 99.75 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Srgap2 35
  • 91.63 (n)
  • 98.33 (a)
chicken
(Gallus gallus)
Aves SRGAP2 35
  • 81.57 (n)
  • 94.21 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap2 35
  • 72.63 (n)
  • 78.79 (a)
Str.3514 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32617 35
zebrafish
(Danio rerio)
Actinopterygii srgap2a 35
  • 73.87 (n)
  • 78.01 (a)
Species with no ortholog for SRGAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SRGAP2 Gene

ENSEMBL:
Gene Tree for SRGAP2 (if available)
TreeFam:
Gene Tree for SRGAP2 (if available)

Paralogs for SRGAP2 Gene

genes like me logo Genes that share paralogs with SRGAP2: view

Variants for SRGAP2 Gene

Sequence variations from dbSNP and Humsavar for SRGAP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17018890 - 206,461,084(+) GAACT(A/G)GAACG reference, synonymous-codon, utr-variant-3-prime
rs9242 -- 206,464,055(+) GAAAA(C/T)AGAGG utr-variant-3-prime
rs502336 -- 206,217,751(+) GAACC(C/T)AAGCT intron-variant
rs552469 -- 206,340,213(+) CTGGG(A/G)ATATG intron-variant
rs523647 -- 206,363,978(-) AGTAG(A/G)ATTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP2 Gene

Variant ID Type Subtype PubMed ID
nsv821120 CNV Duplication 20802225
esv28559 CNV Gain 19812545
nsv826442 CNV Gain 20364138
dgv521n71 CNV Loss 21882294

Relevant External Links for SRGAP2 Gene

Human Gene Mutation Database (HGMD)
SRGAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SRGAP2 Gene

Disorders for SRGAP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SRGAP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
infantile epileptic encephalopathy
  • west syndrome
3p- syndrome
  • chromosome 3pter-p25 deletion syndrome
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SRGP2_HUMAN
  • Note=A chromosomal aberration disrupting SRGAP2 has been found in a patient with early infantile epileptic encephalopathy. Balanced translocation t(1;9)(q32;q13) (PubMed:22106086). {ECO:0000269 PubMed:22106086}.

Relevant External Links for SRGAP2

Genetic Association Database (GAD)
SRGAP2
Human Genome Epidemiology (HuGE) Navigator
SRGAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRGAP2
genes like me logo Genes that share disorders with SRGAP2: view

No data available for Genatlas for SRGAP2 Gene

Publications for SRGAP2 Gene

  1. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. (PMID: 11672528) Wong K. … Rao Y. (Cell 2001) 2 3 4 67
  2. Changes in mRNA of Slit-Robo GTPase-activating protein 2 following facial nerve transection. (PMID: 15046868) Madura T. … Tohyama M. (Brain Res. Mol. Brain Res. 2004) 2 3
  3. FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. (PMID: 12736724) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 3 23
  4. Luzp4 defines a new mRNA export pathway in cancer cells. (PMID: 25662211) Viphakone N. … Wilson S.A. (Nucleic Acids Res. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for SRGAP2 Gene

Sources for SRGAP2 Gene

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